rs2179010

This variant is located in the FDFT1 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

phospholipids:total lipids ratio

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele G

OR 0.01

p 4.0e-11

N 450,015

Large GWAS

multi-ancestry

low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)

Allele C

OR 0.02

p 2.0e-8

N 115,082

Large GWAS

European

About FDFT1

This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene. [provided by RefSeq, Jul 2008]

View all FDFT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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